Collagen, type III, alpha 1
Collagen alpha-1(III) chain is a protein that in humans is encoded by the COL3A1 gene[1][2], which is located on chromosome 2.
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[edit] Function
Collagen alpha-1(III) chain is a fibrillar collagen that is found in extensible connective tissues such as skin, lung, and the vascular system, frequently in association with type I collagen. Although alternate transcripts have been detected for this gene, they are the result of mutations; these mutations alter splicing, often leading to the exclusion of multiple exons.[3]
Type-III collagen is a fibrous scleroprotein in bone, cartilage, dentin, tendon, bone marrow stroma and other connective tissue; yields gelatin on boiling.
Scleroprotein is a simple protein found in horny and cartilaginous tissues and in the lens of the eye.
[edit] Clinical significance
Mutations in this gene are associated with type III and IV Ehlers-Danlos syndrome and with aortic and arterial aneurysms.
[edit] See also
[edit] References
- ^ Janeczko RA, Ramirez F (Oct 1989). "Nucleotide and amino acid sequences of the entire human alpha 1 (III) collagen". Nucleic Acids Res 17 (16): 6742. doi:10.1093/nar/17.16.6742. PMC 318382. PMID 2780304. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=318382.
- ^ Superti-Furga A, Gugler E, Gitzelmann R, Steinmann B (Jun 1988). "Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen". J Biol Chem 263 (13): 6226–32. PMID 2834369.
- ^ "Entrez Gene: COL3A1 collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1281.
[edit] Further reading
- Kuivaniemi H, Tromp G, Prockop DJ (1991). "Genetic causes of aortic aneurysms. Unlearning at least part of what the textbooks say.". J. Clin. Invest. 88 (5): 1441–4. doi:10.1172/JCI115452. PMC 295644. PMID 1939638. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=295644.
- Kuivaniemi H, Tromp G, Prockop DJ (1997). "Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels". Hum. Mutat. 9 (4): 300–15. doi:10.1002/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9. PMID 9101290.
[edit] External links
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